Human Health Exposure Analysis Resource

Last uploaded: July 19, 2024
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Preferred Name

agammaglobulinemia
Synonyms

mu heavy chain deficiency

IGHM

hypogammaglobulinemia
Definitions

A B cell deficiency that is caused by a reduction in all types of gamma globulins. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_2583
comment

OMIM mapping confirmed by DO. [SN].
alternative label

mu heavy chain deficiency

IGHM

hypogammaglobulinemia
database_cross_reference

SNOMEDCT_US_2023_03_01:267512002

ICD9CM:279.00

UMLS_CUI:C0086438

SNOMEDCT_US_2023_03_01:119250001

UMLS_CUI:C0001768

ICD10CM:D80.1

MESH:D000361

MIM:PS601495

NCI:C26931
definition

A B cell deficiency that is caused by a reduction in all types of gamma globulins.

OMIM mapping confirmed by DO. [SN].
has close match

MESH:D000361
has exact match

MESH:D000361
has exact synonym

mu heavy chain deficiency

IGHM

hypogammaglobulinemia
has_alternative_id

DOID:618
has_obo_namespace

disease_ontology
id

DOID:2583
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus
label

agammaglobulinemia
notation

DOID:2583
note

A B cell deficiency that is caused by a reduction in all types of gamma globulins.

OMIM mapping confirmed by DO. [SN].
preferred label

agammaglobulinemia
prefLabel

agammaglobulinemia
subClassOf

http://purl.obolibrary.org/obo/DOID_2115
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2583 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_2583 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_2583 VICO SAME_URI
http://purl.obolibrary.org/obo/DOID_2583 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_2583 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_2583 COVID-19 SAME_URI
http://purl.obolibrary.org/obo/DOID_2583 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_2583 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_2583 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_2583 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_2583 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0015977 MONDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_18306 HRDO LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:2241 IFAR LOOM
http://purl.bioontology.org/ontology/MEDDRA/10001471 MEDDRA LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2583 NATPRO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU008328 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.604.515.032 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0003354 DERMO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085475 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000361 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#810 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.147.142 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/119249001 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/MONDO_0015977 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0015977 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0015977 DOVES LOOM
http://purl.obolibrary.org/obo/HP_0004432 HP LOOM
http://purl.obolibrary.org/obo/HP_0004432 UPHENO LOOM
http://purl.obolibrary.org/obo/OMIT_0001789 OMIT LOOM
http://purl.jp/bio/4/id/200906056560090376 IOBC LOOM
http://purl.bioontology.org/ontology/MESH/D000361 MESH LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Agammaglobulinemia RPO LOOM
http://www.orpha.net/ORDO/Orphanet_183669 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C20.673.088 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0001768 OCHV LOOM
rgo:19756 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_2583 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2583 VICO LOOM
http://purl.obolibrary.org/obo/DOID_2583 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2583 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2583 COVID-19 LOOM
http://purl.obolibrary.org/obo/DOID_2583 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2583 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2583 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2583 FNS-H LOOM